What do you already know?

In a few words, describe what you know about gene therapy.

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What do you think?

Sam's parents don't have retinitis pigmentosa (RP). How can RP be an inherited condition?

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What do you think?

You collect blood samples, which contain DNA, from a patient with RP and their relatives. Some of the relatives have RP and some do not. Outline a strategy for using these samples to identify the disease-causing mutation in the patient.

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What do you think?

How can mutations in different genes be associated with a single disease?

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What do you think?

A scan of Sam's genome for the 100 most common mutations known to cause RP didn't find anything. How can you explain this result?

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What do you think?

Sam has a mutation in a gene that affects the function of a transfer RNA (tRNA). Human cells have 20 different types of tRNAs, and each adds a different amino acid to growing peptide chains, which form proteins.

Based on what you know so far, would you expect this mutation to affect all proteins produced in Sam's cells? Explain your reasoning.

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What do you think?

What evidence could you collect to confirm that the mutation identified in Sam’s DNA causes symptoms of RP?

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What do you think?

Doctors may be able to inject a functioning copy of the gene mutated in Sam's DNA in the cells of his eyes. If the procedure were successful, would you expect Sam to regain his vision? Why or why not?

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What do you think?

Other than identifying a target for gene therapy, how does identifying a disease-causing mutation help a patient and their family?

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